Share story

Lately, there has been a national uproar over the rising cost of medicine in the U.S. While this is an important public debate, it largely overlooks the critical importance of innovation, which is desperately needed for medical conditions that have no treatment.

Welcome to the world of rare disease. There are 30 million Americans affected by 7,000 rare diseases, and, of those, only 5 percent have Food and Drug Administration-approved therapies.

The challenges that come with drug development, namely, high research and development (R&D) costs, small patient populations and lack of incentives, while normally daunting, are even more formidable in the world of rare disease. However, history has shown that legislation, such as the Orphan Drug Act (1983), can spark innovation, and ultimately bring new lifesaving medicine to patients.

Congress is currently weighing one such incentive, the OPEN ACT (Orphan Product Extensions Now Accelerating Cures and Treatments). It would encourage companies to repurpose existing drugs for rare diseases, thereby eliminating much of the costs associated with R&D. Repurposing drugs is faster and far more economical than starting development from scratch, and with proper clinical studies, can quickly demonstrate both safety and effectiveness. We think this bill has the potential to double the number of treatment options available to patients.

As physicians and researchers who specialize in the care of individuals with rare diseases, we share a passion for finding treatments for our patients, as well as a unique, personal connection to the rare disease community. One of us (Klane White) is the father of a child who died from complications of Hurler syndrome (Mucopolysaccharidosis type I-H), a progressive genetic disorder with an average life expectancy of 10 years.

The other (David Fajgenbaum) is himself a patient with idiopathic Multicentric Castleman Disease (iMCD), a condition in which one-third of patients die within five years of diagnosis. Personally and professionally, we have both faced deadly illnesses with no FDA-approved treatments. The repurposing of existing drugs is the most expeditious and safe means of providing hope to patients and families like ours.

In our role as health care providers for patients with rare diseases, we often find that the only options for treatment are drugs developed for other diseases, not for the disease in question. For many patients with rare diseases, not even these “off-label” options are available, leaving them without any viable chance for improvement in their health, function or quality of life. “Off-label” use often has strong scientific evidence for efficacy, but lacks FDA approval, subsequently putting these drugs legally and financially out of reach for patients who would otherwise benefit from their use.

Repurposing existing drugs allows for quality-controlled evaluation and release of therapies, with FDA oversight, which would otherwise need to be prescribed “off-label.” The OPEN ACT would make therapies safely available to patients who need them, by making it financially viable for pharmaceutical companies to invest resources in the identification of additional diseases that their existing drugs may treat.

Sen. Patty Murray, D-Wash., who leads a key Senate health committee, was recently quoted as saying, “…one of my top priorities has been finding ways to get patients safe, effective, affordable drugs and treatments more quickly while upholding the highest standards of patient safety and consumer safety.” We applaud Murray for her leadership, but we adamantly urge her and her colleagues in the Senate to extend this sentiment to the world of rare disease, by supporting the OPEN ACT.

For rare disease patients whose time is running out, the OPEN ACT is just what the doctor ordered.

Dr. Klane K. White is a pediatric orthopedic surgeon at Seattle Children’s Hospital and associate professor at the University of Washington School of Medicine. He is an executive founding member of the Skeletal Dysplasia Management Consortium. Dr. David Fajgenbaum is executive director of the Castleman Disease Collaborative Network and assistant professor and associate director of the Orphan Disease Center at the University of Pennsylvania.